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SUMMARY:CVD Forum: Functional interpretation of genetic variants associate
 d with cardiovascular-related traits: an integrative genomics approach. - 
 Dr Dirk Paul\, Lecturer in Integrative Genomics\, Cardiovascular Epidemiol
 ogy Unit\, Department of Public Health and Primary Care\, University of Ca
 mbridge
DTSTART:20150729T130000Z
DTEND:20150729T140000Z
UID:TALK60070@talks.cam.ac.uk
CONTACT:38510
DESCRIPTION:Large-scale\, genome-wide studies have identified a plethora o
 f genetic variants associated with cardiovascular diseases (e.g. coronary 
 heart disease)\, and their risk factors (e.g. blood pressure and cholester
 ol levels)\, as well as related traits (e.g. blood cell traits). However\,
  the molecular mechanisms underlying the majority of these genetic variant
 s have remained elusive. There is a pressing need to translate genetic ass
 ociations into biological mechanisms. This translation has the potential t
 o empower clinical care through\, for example\, improved risk prediction\,
  biomarker identification\, disease sub-classification\, drug development 
 and dosing.\n\nMany genetic variants identified through genome-wide associ
 ation studies map outside protein-coding regions suggesting that the under
 lying functional variants may influence phenotype through regulation of ge
 ne expression. In the first part of my talk\, I will address the formidabl
 e challenge of identifying functional variants at these regions\, and inte
 rpreting their biological consequences. As proof-of-concept\, I discuss th
 e systematic functional translation of genetic loci associated with blood 
 cell traits (Paul DS et al.\, PLOS Genet. 2011\; HaemGen Consortium\, Natu
 re 2012\; Paul DS et al.\, Genome Res. 2013).\n\nIn the second part of my 
 talk\, I will outline recently established and planned integrative genomic
 s projects at the Cardiovascular Epidemiology Unit. These include (A) the 
 characterisation of human induced pluripotent stem cell (hiPSC)-derived ce
 ll types that play a role in the pathobiology of cardiovascular diseases\;
  and (B) the promise of recall-by-genotype studies using the 50\,000-parti
 cipant INTERVAL study as a bioresource to enable targeted deep-phenotyping
  of individuals carrying trait-associated genetic variants.\n
LOCATION:Thomas Strangeways Room\, Strangeways Research Laboratory
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